A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012534



Internal ID18755067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169955618..169995965hg38UCSC Ensembl
Innerchr1:169924759..169965106hg19UCSC Ensembl
Innerchr1:168191383..168231730hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3840348
hg1940348
hg1840348
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv464n100
Supporting Variantsnssv3496415
Samples
Known GenesKIFAP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012534
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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